Dr. Michael D. Ehlers Duke University Medical Center, Durham North Carolina
Ube3a and altered neuronal trafficking in Angelman syndrome
It is known that UBE3A is important inside brain neurons especially at their membrane surfaces where the synapse facilitates communication between neurons. It has also been recognized that other cellular problems develop when UBE3A is defective and this laboratory identified problems in a protein synthesis and transport system called the Golgi apparatus. Inside the cells of Angelman mice, the Golgi are abnormal and swollen and the work of these investigators provided new insight into UBE3A’s relationship to other proteins in the cell.